Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies.

Objective: Although previous research shows that generalized and focal epilepsies have at least some distinct genetic influences, it remains uncertain why some families manifest both types of epilepsy. We tested two hypotheses: (1) families with both generalized and focal epilepsy carry separate risk alleles for both types; and (2) within mixed families, the type of epilepsy each individual manifests is influenced by the relative burden of separate risk alleles for generalized epilepsies and focal epilepsies.

Methods: The Epi4K cohort included 711 individuals with epilepsy from 257 families (113 generalized families, 66 focal families, 78 mixed families).

Development of an overarching framework for anticipating and assessing adverse and other unintended consequences of public health interventions (CONSEQUENT): a best-fit framework synthesis.

Introduction: Despite the best intentions and intended beneficial outcomes, public health (PH) interventions can have adverse effects and other unintended consequences (AUCs). AUCs are rarely systematically examined when developing, evaluating or implementing PH interventions. We, therefore, used a multipronged, evidence-based approach to develop a framework to support researchers and decision-makers in anticipating and assessing AUCs of PH interventions.

The importance of viewshed in nest site selection of a ground-nesting shorebird.

Birds and their nests are vulnerable to predation during the breeding season. Many birds have evolved nest placement strategies that minimize risk such as concealing nests in vegetation, or nesting in inaccessible cavities or on cliffs. Some ground-nesting species choose open areas where vegetative concealment or physical protection is minimal.

Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features.

Objectives: We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE).

Methods: Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for common risk variants associated with schizophrenia.

Brain tumor patients' rights and the power of patient advocacy: The current international landscape.

Across the globe, significant inequities in brain tumor treatment, care, and support perpetuate. Identifying and addressing these unmet needs in the context of patients' rights is crucial to reducing inequalities and improving outcomes for people living with brain tumors. Brain tumor patient advocacy addresses and influences gaps in healthcare provision, ensuring optimal treatment, care, and support for patients, their caregivers, and families.